3037 lines
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Entry
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- *300651 - PORCUPINE O-ACYLTRANSFERASE; PORCN
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300651</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300651">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000102312;t=ENST00000326194" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=64840" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=300651" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000102312;t=ENST00000326194" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001282167,NM_022825,NM_203473,NM_203474,NM_203475,XM_047442357,XM_047442358,XM_047442359,XM_047442360,XM_047442361,XM_047442362,XM_047442363,XM_047442364,XM_047442365,XM_047442366,XM_047442367,XM_047442368,XM_047442369,XM_047442370,XM_047442371,XM_047442372,XM_047442373" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_203475" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=300651" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=06680&isoform_id=06680_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/PORCN" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/950412,11643561,11643564,11643567,11643570,17512193,45439329,45439331,45439333,45439335,116242723,119571162,119571163,119571164,119571165,119571166,189054512,193786635,194373535,221046144,531990836,2217393690,2217393692,2217393694,2217393696,2217393698,2217393700,2217393702,2217393704,2217393706,2217393708,2217393710,2217393712,2217393714,2217393716,2217393718,2217393720,2217393722,2462630522,2462630524,2462630526,2462630528,2462630530,2462630533,2462630535,2462630537,2462630539,2462630541,2462630543,2462630545,2462630547,2462630549,2462630551,2462630553,2462630555" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q9H237" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=64840" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102312;t=ENST00000326194" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=PORCN" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=PORCN" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+64840" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/PORCN" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:64840" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/64840" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000326194.11&hgg_start=48508992&hgg_end=48520814&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17652" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:17652" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/porcn" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300651[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300651[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PORCN/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000102312" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=PORCN" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PORCN" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/PORCN" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PORCN&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA134906089" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:17652" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0004957.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1890212" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/PORCN#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1890212" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/64840/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=64840" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00003394;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-081105-87" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:64840" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=PORCN&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 205573006<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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300651
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
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<span class="mim-font">
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PORCUPINE O-ACYLTRANSFERASE; PORCN
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</span>
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</h3>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
PORCUPINE, DROSOPHILA, HOMOLOG OF<br />
|
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PORC
|
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</span>
|
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</h4>
|
|
</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PORCN" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PORCN</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/X/248?start=-3&limit=10&highlight=248">Xp11.23</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:48508992-48520814&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:48,508,992-48,520,814</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/248?start=-3&limit=10&highlight=248">
|
|
Xp11.23
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Focal dermal hypoplasia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/305600"> 305600 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<p>The Drosophila porcupine (Porc) gene encodes an endoplasmic reticulum transmembrane protein involved in processing of wingless proteins (see WNT1; <a href="/entry/164820">164820</a>). By searching for homologs of Drosophila and mouse Porc, followed by PCR of adult hippocampus and a neuroblastoma cell line, <a href="#2" class="mim-tip-reference" title="Caricasole, A., Ferraro, T., Rimland, J. M., Terstappen, G. C. <strong>Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine.</strong> Gene 288: 147-157, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12034504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12034504</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00467-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12034504">Caricasole et al. (2002)</a> cloned human PORC. Alternative splicing of exons 7 and 8 results in 4 PORC transcripts, PORCA through PORCD. Northern blot analysis detected a 1.8-kb transcript in human cell lines. RT-PCR detected variable expression of 4 PORC transcripts in most human tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12034504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Wang, X., Reid Sutton, V., Peraza-Llanes, J. O., Yu, Z., Rosetta, R., Kou, Y.-C., Eble, T. N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I. B. <strong>Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.</strong> Nature Genet. 39: 836-838, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546030</a>] [<a href="https://doi.org/10.1038/ng2057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546030">Wang et al. (2007)</a> stated that PORCN has 5 transcript variants that encode 5 protein isoforms with tissue-specific variability and expression (PORCA-PROCE). To investigate how developmental expression of PORCN contributes to the specific defects in focal dermal hypoplasia (FDH; <a href="/entry/300651">300651</a>), <a href="#6" class="mim-tip-reference" title="Wang, X., Reid Sutton, V., Peraza-Llanes, J. O., Yu, Z., Rosetta, R., Kou, Y.-C., Eble, T. N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I. B. <strong>Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.</strong> Nature Genet. 39: 836-838, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546030</a>] [<a href="https://doi.org/10.1038/ng2057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546030">Wang et al. (2007)</a> performed RNA in situ hybridization on embryonic day 12.5 and embryonic day 14.5 mouse embryos using a probe that detects all known mouse Porcn transcript variants. They detected Porcn and the distinctive peripheral pattern in cartilage primordia of long bones and digits, calvarian, facial skeleton, molar tooth bud, and the petrous part of the temporal bone. They also observed it in developing skin of the anterior body wall and limbs and at lower levels in developing cerebral cortex and retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Caricasole, A., Ferraro, T., Rimland, J. M., Terstappen, G. C. <strong>Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine.</strong> Gene 288: 147-157, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12034504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12034504</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00467-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12034504">Caricasole et al. (2002)</a> found that overexpression of human PORCD in rat PC12 cells enhanced activity of a WNT7A (<a href="/entry/601570">601570</a>) expression construct. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12034504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Caricasole, A., Ferraro, T., Rimland, J. M., Terstappen, G. C. <strong>Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine.</strong> Gene 288: 147-157, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12034504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12034504</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00467-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12034504">Caricasole et al. (2002)</a> determined that the PORCN gene contains 15 exons and spans about 12 kb. The first exon is noncoding, and the putative promoter region contains a TATA box and several SP1 (<a href="/entry/189906">189906</a>)-binding elements. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12034504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Caricasole, A., Ferraro, T., Rimland, J. M., Terstappen, G. C. <strong>Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine.</strong> Gene 288: 147-157, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12034504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12034504</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00467-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12034504">Caricasole et al. (2002)</a> mapped the PORCN gene to chromosome Xp11.23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12034504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Focal dermal hypoplasia (FDH; <a href="/entry/305600">305600</a>) is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular, and dental malformations. In 2 unrelated females with focal dermal hypoplasia, <a href="#6" class="mim-tip-reference" title="Wang, X., Reid Sutton, V., Peraza-Llanes, J. O., Yu, Z., Rosetta, R., Kou, Y.-C., Eble, T. N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I. B. <strong>Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.</strong> Nature Genet. 39: 836-838, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546030</a>] [<a href="https://doi.org/10.1038/ng2057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546030">Wang et al. (2007)</a> used array comparative hybridization to identify a 219-kb deletion in Xp11.23 that encompassed 5 genes, including PORCN. FISH confirmed the deletion. There was 100% skewing of X chromosome inactivation (XCI) in peripheral blood lymphoblasts (PBL) DNA in both. The finding of 2 such nearly identical heterozygous genomic deletions may indicate that this is a common mutational mechanism for FDH, possibly mediated by low-copy repeat sequences. The authors raised the question of whether complex phenotypes caused by haploinsufficiency of other disease-associated genes in this region, such as EBP (<a href="/entry/300205">300205</a>), could result from this deletion. <a href="#6" class="mim-tip-reference" title="Wang, X., Reid Sutton, V., Peraza-Llanes, J. O., Yu, Z., Rosetta, R., Kou, Y.-C., Eble, T. N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I. B. <strong>Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.</strong> Nature Genet. 39: 836-838, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546030</a>] [<a href="https://doi.org/10.1038/ng2057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546030">Wang et al. (2007)</a> identified mutations in 10 of 15 females with FDH; see, e.g., <a href="#0001">300651.0001</a>-<a href="#0002">300651.0002</a>. They also identified de novo mosaic mutations with overlapping wildtype and mutant sequencing profiles in all 3 male index FDH cases studied but not in their parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 females with FDH, <a href="#4" class="mim-tip-reference" title="Grzeschik, K.-H., Bornholdt, D., Oeffner, F., Konig, A., Boente, M. del C., Fritz, B., Hertl, M., Grasshoff, U., Hofling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., Happle, R. <strong>Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.</strong> Nature Genet. 39: 833-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546031</a>] [<a href="https://doi.org/10.1038/ng2052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546031">Grzeschik et al. (2007)</a> identified deletions in Xp11.23 that overlapped by approximately 80 kb and included 4 genes, including PORCN. <a href="#4" class="mim-tip-reference" title="Grzeschik, K.-H., Bornholdt, D., Oeffner, F., Konig, A., Boente, M. del C., Fritz, B., Hertl, M., Grasshoff, U., Hofling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., Happle, R. <strong>Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.</strong> Nature Genet. 39: 833-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546031</a>] [<a href="https://doi.org/10.1038/ng2052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546031">Grzeschik et al. (2007)</a> concluded that FDH can be a component of a contiguous gene syndrome. They also noted markedly skewed X-chromosome inactivation. In 8 individuals with FDH, <a href="#4" class="mim-tip-reference" title="Grzeschik, K.-H., Bornholdt, D., Oeffner, F., Konig, A., Boente, M. del C., Fritz, B., Hertl, M., Grasshoff, U., Hofling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., Happle, R. <strong>Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.</strong> Nature Genet. 39: 833-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546031</a>] [<a href="https://doi.org/10.1038/ng2052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546031">Grzeschik et al. (2007)</a> identified several heterozygous nonsense mutations and 1 splice site mutation (e.g., <a href="#0003">300651.0003</a>-<a href="#0004">300651.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Leoyklang, P., Suphapeetiporn, K., Wananukul, S., Shotelersuk, V. <strong>Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.</strong> Clin. Genet. 73: 373-379, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18325042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18325042</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.00975.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18325042">Leoyklang et al. (2008)</a> reported 3 unrelated Thai girls with sporadic FDH in whom they identified mutations in the PORCN gene (see, e.g., <a href="#0005">300651.0005</a>), confirming that PORCN is the gene responsible for FDH across different populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18325042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bornholdt, D., Oeffner, F., Konig, A., Happle, R., Alanay, Y., Ascherman, J., Benke, P. J., Boente, M. C., van der Burgt, I., Chassaing, N., Ellis, I., Francisco, C. R. I., and 22 others. <strong>PORCN mutations in focal dermal hypoplasia: coping with lethality.</strong> Hum. Mutat. 30: E618-E628, 2009. Note: Electronic Article. Erratum: Hum. Mutat. 30: 1472-1473, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19309688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19309688</a>] [<a href="https://doi.org/10.1002/humu.20992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19309688">Bornholdt et al. (2009)</a> performed molecular characterization of 24 unrelated FDH patients from different ethnic backgrounds and identified 23 different PORCN mutations: 3 were microdeletions encompassing PORCN as well as neighboring genes, and 12 (50%) of the 24 patients carried nonsense mutations resulting in loss of function. In 1 patient, a canonic splice acceptor site was mutated, and in 9 patients, 8 different missense mutations involving highly conserved amino acids (see, e.g., <a href="#0005">300651.0005</a>) were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19309688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Froyen, G., Govaerts, K., Van Esch, H., Verbeeck, J., Tuomi, M.-L., Heikkila, H., Torniainen, S., Devriendt, K., Fryns, J.-P., Marynen, P., Jarvela, I., Ala-Mello, S. <strong>Novel PORCN mutations in focal dermal hypoplasia.</strong> Clin. Genet. 76: 535-543, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19863546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19863546</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01248.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19863546">Froyen et al. (2009)</a> analyzed the PORCN gene in 6 Finnish and 2 Belgian patients with FDH and identified a 150-kb deletion, encompassing PORCN and at least 5 other genes in a 13-year-old Finnish girl. In addition, they identified 2 different missense mutations, 1 in a 6-year-old Belgian girl and the other in a 16-year-old Finnish girl. <a href="#3" class="mim-tip-reference" title="Froyen, G., Govaerts, K., Van Esch, H., Verbeeck, J., Tuomi, M.-L., Heikkila, H., Torniainen, S., Devriendt, K., Fryns, J.-P., Marynen, P., Jarvela, I., Ala-Mello, S. <strong>Novel PORCN mutations in focal dermal hypoplasia.</strong> Clin. Genet. 76: 535-543, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19863546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19863546</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01248.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19863546">Froyen et al. (2009)</a> noted that the latter mutation (R365Q; <a href="#0005">300651.0005</a>) had previously been found in a Thai girl with a severe form of FDH by <a href="#5" class="mim-tip-reference" title="Leoyklang, P., Suphapeetiporn, K., Wananukul, S., Shotelersuk, V. <strong>Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.</strong> Clin. Genet. 73: 373-379, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18325042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18325042</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.00975.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18325042">Leoyklang et al. (2008)</a> and in a girl with a mild FDH phenotype by <a href="#1" class="mim-tip-reference" title="Bornholdt, D., Oeffner, F., Konig, A., Happle, R., Alanay, Y., Ascherman, J., Benke, P. J., Boente, M. C., van der Burgt, I., Chassaing, N., Ellis, I., Francisco, C. R. I., and 22 others. <strong>PORCN mutations in focal dermal hypoplasia: coping with lethality.</strong> Hum. Mutat. 30: E618-E628, 2009. Note: Electronic Article. Erratum: Hum. Mutat. 30: 1472-1473, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19309688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19309688</a>] [<a href="https://doi.org/10.1002/humu.20992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19309688">Bornholdt et al. (2009)</a>, and that the same arginine was found to be mutated to a glycine (R365G) in a male patient with FDH by <a href="#6" class="mim-tip-reference" title="Wang, X., Reid Sutton, V., Peraza-Llanes, J. O., Yu, Z., Rosetta, R., Kou, Y.-C., Eble, T. N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I. B. <strong>Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.</strong> Nature Genet. 39: 836-838, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546030</a>] [<a href="https://doi.org/10.1038/ng2057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546030">Wang et al. (2007)</a>. Review of the 63 reported PORCN mutations, revealed that although mutations were scattered throughout the entire protein, there appeared to be a hotspot region between amino acids 349 and 365, with 11 mutations reported to date in that 16-amino acid stretch. <a href="#3" class="mim-tip-reference" title="Froyen, G., Govaerts, K., Van Esch, H., Verbeeck, J., Tuomi, M.-L., Heikkila, H., Torniainen, S., Devriendt, K., Fryns, J.-P., Marynen, P., Jarvela, I., Ala-Mello, S. <strong>Novel PORCN mutations in focal dermal hypoplasia.</strong> Clin. Genet. 76: 535-543, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19863546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19863546</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01248.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19863546">Froyen et al. (2009)</a> stated that these were the first causal PORCN mutations identified in the Finnish and Belgian FDH populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17546030+19309688+18325042+19863546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>5 Selected Examples</a>):</strong>
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<a href="/allelicVariants/300651" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300651[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776737 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776737;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a female with focal dermal hypoplasia (FDH; <a href="/entry/305600">305600</a>), <a href="#6" class="mim-tip-reference" title="Wang, X., Reid Sutton, V., Peraza-Llanes, J. O., Yu, Z., Rosetta, R., Kou, Y.-C., Eble, T. N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I. B. <strong>Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.</strong> Nature Genet. 39: 836-838, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546030</a>] [<a href="https://doi.org/10.1038/ng2057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546030">Wang et al. (2007)</a> identified a heterozygous 1059_1071dup13 (T358Pfs65X) mutation in exon 12 of the PORCN gene. Her father was found to have very low signals for the mutant sequence superimposed on the wildtype sequence, suggesting somatic mosaicism. The daughter was mildly affected, with dental pitting and notching, telangiectatic and atrophic skin, a Blaschko-linear pattern, and ectrodactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606973 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606973;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267606973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267606973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011447 OR RCV001857332 OR RCV003483430" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011447, RCV001857332, RCV003483430" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011447...</a>
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<p>In 2 females with focal dermal hypoplasia (FDH; <a href="/entry/305600">305600</a>), <a href="#6" class="mim-tip-reference" title="Wang, X., Reid Sutton, V., Peraza-Llanes, J. O., Yu, Z., Rosetta, R., Kou, Y.-C., Eble, T. N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I. B. <strong>Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.</strong> Nature Genet. 39: 836-838, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546030</a>] [<a href="https://doi.org/10.1038/ng2057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546030">Wang et al. (2007)</a> identified heterozygosity for a 178G-A transition in exon 3 of the PORCN gene, resulting in a gly60-to-arg (G60R) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 FOCAL DERMAL HYPOPLASIA</strong>
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PORCN, ARG124TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852218 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852218;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011448 OR RCV000599522" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011448, RCV000599522" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011448...</a>
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<p>In 2 unrelated females with focal dermal hypoplasia (FDH; <a href="/entry/305600">305600</a>), <a href="#4" class="mim-tip-reference" title="Grzeschik, K.-H., Bornholdt, D., Oeffner, F., Konig, A., Boente, M. del C., Fritz, B., Hertl, M., Grasshoff, U., Hofling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., Happle, R. <strong>Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.</strong> Nature Genet. 39: 833-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546031</a>] [<a href="https://doi.org/10.1038/ng2052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546031">Grzeschik et al. (2007)</a> identified heterozygosity for a 370C-T transition in the PORCN gene, resulting in an arg124-to-ter (R124X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 FOCAL DERMAL HYPOPLASIA</strong>
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PORCN, TRP74TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852219 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852219;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011449 OR RCV003234900" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011449, RCV003234900" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011449...</a>
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<p>In a female with focal dermal hypoplasia (FDH; <a href="/entry/305600">305600</a>), <a href="#4" class="mim-tip-reference" title="Grzeschik, K.-H., Bornholdt, D., Oeffner, F., Konig, A., Boente, M. del C., Fritz, B., Hertl, M., Grasshoff, U., Hofling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., Happle, R. <strong>Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.</strong> Nature Genet. 39: 833-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546031</a>] [<a href="https://doi.org/10.1038/ng2052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17546031">Grzeschik et al. (2007)</a> identified a heterozygous 222G-A transition in the PORCN gene, resulting in a trp74-to-ter (W74X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 FOCAL DERMAL HYPOPLASIA</strong>
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PORCN, ARG365GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2061714949 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2061714949;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2061714949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2061714949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022872 OR RCV003325557" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022872, RCV003325557" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022872...</a>
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<p>In a 3.75-year-old Thai girl with a severe form of focal dermal hypoplasia (FDH; <a href="/entry/305600">305600</a>), <a href="#5" class="mim-tip-reference" title="Leoyklang, P., Suphapeetiporn, K., Wananukul, S., Shotelersuk, V. <strong>Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.</strong> Clin. Genet. 73: 373-379, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18325042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18325042</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.00975.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18325042">Leoyklang et al. (2008)</a> identified heterozygosity for a 1094G-A transition in exon 13 of the PORCN gene, predicted to result in an arg365-to-gln (R365Q) substitution at an evolutionarily conserved residue. Features in this patient included developmental delay, bilateral clinical anophthalmos, protruding ears, surgically repaired left complete cleft lip and palate, hypodontia, notched incisors, split sternum, ectrodactyly of the right hand, bilateral syndactyly of toes, mild scoliosis, and linear and patchy dermal hypoplasia on the chest, back, and extremities. The mutation was not found in 100 ethnically matched control X chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18325042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 2-month-old female infant with a mild FDH phenotype, <a href="#1" class="mim-tip-reference" title="Bornholdt, D., Oeffner, F., Konig, A., Happle, R., Alanay, Y., Ascherman, J., Benke, P. J., Boente, M. C., van der Burgt, I., Chassaing, N., Ellis, I., Francisco, C. R. I., and 22 others. <strong>PORCN mutations in focal dermal hypoplasia: coping with lethality.</strong> Hum. Mutat. 30: E618-E628, 2009. Note: Electronic Article. Erratum: Hum. Mutat. 30: 1472-1473, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19309688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19309688</a>] [<a href="https://doi.org/10.1002/humu.20992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19309688">Bornholdt et al. (2009)</a> identified heterozygosity for the R365Q mutation in the PORCN gene. The patient, who was a postzygotic mosaic for the mutation, displayed unilateral linear skin lesions, patchy hairlessness, and absence deformities of bones. The mutation was not found in 100 unrelated controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19309688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 16-year-old Finnish girl with FDH, <a href="#3" class="mim-tip-reference" title="Froyen, G., Govaerts, K., Van Esch, H., Verbeeck, J., Tuomi, M.-L., Heikkila, H., Torniainen, S., Devriendt, K., Fryns, J.-P., Marynen, P., Jarvela, I., Ala-Mello, S. <strong>Novel PORCN mutations in focal dermal hypoplasia.</strong> Clin. Genet. 76: 535-543, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19863546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19863546</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01248.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19863546">Froyen et al. (2009)</a> identified a de novo R365Q mutation in the PORCN gene. The mutation was not found in 300 X chromosomes derived from Finnish and Belgian controls. The patient had linear atrophic skin lesions on her extremities and buttocks, light erythematous streaks on the face, and an atrophic spot on the right side of the chest, as well as syndactyly of right-sided fingers and toes and pseudoarthrosis of the right bifid clavicle. She developed a cataract in her colobomatous right eye, which was without vision at 16 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19863546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Bornholdt, D., Oeffner, F., Konig, A., Happle, R., Alanay, Y., Ascherman, J., Benke, P. J., Boente, M. C., van der Burgt, I., Chassaing, N., Ellis, I., Francisco, C. R. I., and 22 others.
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<strong>PORCN mutations in focal dermal hypoplasia: coping with lethality.</strong>
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Hum. Mutat. 30: E618-E628, 2009. Note: Electronic Article. Erratum: Hum. Mutat. 30: 1472-1473, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19309688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19309688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19309688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20992" target="_blank">Full Text</a>]
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Caricasole, A., Ferraro, T., Rimland, J. M., Terstappen, G. C.
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<strong>Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine.</strong>
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Gene 288: 147-157, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12034504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12034504</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12034504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0378-1119(02)00467-5" target="_blank">Full Text</a>]
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Froyen, G., Govaerts, K., Van Esch, H., Verbeeck, J., Tuomi, M.-L., Heikkila, H., Torniainen, S., Devriendt, K., Fryns, J.-P., Marynen, P., Jarvela, I., Ala-Mello, S.
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<strong>Novel PORCN mutations in focal dermal hypoplasia.</strong>
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Clin. Genet. 76: 535-543, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19863546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19863546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19863546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Grzeschik, K.-H., Bornholdt, D., Oeffner, F., Konig, A., Boente, M. del C., Fritz, B., Hertl, M., Grasshoff, U., Hofling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., Happle, R.
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<strong>Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.</strong>
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Nature Genet. 39: 833-835, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546031</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng2052" target="_blank">Full Text</a>]
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Leoyklang, P., Suphapeetiporn, K., Wananukul, S., Shotelersuk, V.
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Clin. Genet. 73: 373-379, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18325042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18325042</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18325042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Wang, X., Reid Sutton, V., Peraza-Llanes, J. O., Yu, Z., Rosetta, R., Kou, Y.-C., Eble, T. N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I. B.
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<strong>Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.</strong>
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Nature Genet. 39: 836-838, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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alopez : 06/17/2022<br>carol : 06/04/2022<br>carol : 09/13/2019<br>carol : 08/23/2016<br>carol : 03/03/2015<br>carol : 3/21/2013<br>wwang : 2/25/2011<br>terry : 2/3/2011<br>carol : 8/31/2007<br>carol : 8/31/2007<br>terry : 8/29/2007<br>mgross : 6/11/2007
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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PORCUPINE O-ACYLTRANSFERASE; PORCN
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PORCUPINE, DROSOPHILA, HOMOLOG OF<br />
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PORC
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</span>
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</h4>
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</div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PORCN</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 205573006;
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: Xp11.23
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Genomic coordinates <span class="small">(GRCh38)</span> : X:48,508,992-48,520,814 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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Xp11.23
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</span>
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</td>
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<td>
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<span class="mim-font">
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Focal dermal hypoplasia
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</span>
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</td>
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<td>
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<span class="mim-font">
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305600
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</span>
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</td>
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<td>
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<span class="mim-font">
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X-linked dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The Drosophila porcupine (Porc) gene encodes an endoplasmic reticulum transmembrane protein involved in processing of wingless proteins (see WNT1; 164820). By searching for homologs of Drosophila and mouse Porc, followed by PCR of adult hippocampus and a neuroblastoma cell line, Caricasole et al. (2002) cloned human PORC. Alternative splicing of exons 7 and 8 results in 4 PORC transcripts, PORCA through PORCD. Northern blot analysis detected a 1.8-kb transcript in human cell lines. RT-PCR detected variable expression of 4 PORC transcripts in most human tissues examined. </p><p>Wang et al. (2007) stated that PORCN has 5 transcript variants that encode 5 protein isoforms with tissue-specific variability and expression (PORCA-PROCE). To investigate how developmental expression of PORCN contributes to the specific defects in focal dermal hypoplasia (FDH; 300651), Wang et al. (2007) performed RNA in situ hybridization on embryonic day 12.5 and embryonic day 14.5 mouse embryos using a probe that detects all known mouse Porcn transcript variants. They detected Porcn and the distinctive peripheral pattern in cartilage primordia of long bones and digits, calvarian, facial skeleton, molar tooth bud, and the petrous part of the temporal bone. They also observed it in developing skin of the anterior body wall and limbs and at lower levels in developing cerebral cortex and retina. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Caricasole et al. (2002) found that overexpression of human PORCD in rat PC12 cells enhanced activity of a WNT7A (601570) expression construct. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Caricasole et al. (2002) determined that the PORCN gene contains 15 exons and spans about 12 kb. The first exon is noncoding, and the putative promoter region contains a TATA box and several SP1 (189906)-binding elements. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Caricasole et al. (2002) mapped the PORCN gene to chromosome Xp11.23. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Focal dermal hypoplasia (FDH; 305600) is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular, and dental malformations. In 2 unrelated females with focal dermal hypoplasia, Wang et al. (2007) used array comparative hybridization to identify a 219-kb deletion in Xp11.23 that encompassed 5 genes, including PORCN. FISH confirmed the deletion. There was 100% skewing of X chromosome inactivation (XCI) in peripheral blood lymphoblasts (PBL) DNA in both. The finding of 2 such nearly identical heterozygous genomic deletions may indicate that this is a common mutational mechanism for FDH, possibly mediated by low-copy repeat sequences. The authors raised the question of whether complex phenotypes caused by haploinsufficiency of other disease-associated genes in this region, such as EBP (300205), could result from this deletion. Wang et al. (2007) identified mutations in 10 of 15 females with FDH; see, e.g., 300651.0001-300651.0002. They also identified de novo mosaic mutations with overlapping wildtype and mutant sequencing profiles in all 3 male index FDH cases studied but not in their parents. </p><p>In 2 females with FDH, Grzeschik et al. (2007) identified deletions in Xp11.23 that overlapped by approximately 80 kb and included 4 genes, including PORCN. Grzeschik et al. (2007) concluded that FDH can be a component of a contiguous gene syndrome. They also noted markedly skewed X-chromosome inactivation. In 8 individuals with FDH, Grzeschik et al. (2007) identified several heterozygous nonsense mutations and 1 splice site mutation (e.g., 300651.0003-300651.0004). </p><p>Leoyklang et al. (2008) reported 3 unrelated Thai girls with sporadic FDH in whom they identified mutations in the PORCN gene (see, e.g., 300651.0005), confirming that PORCN is the gene responsible for FDH across different populations. </p><p>Bornholdt et al. (2009) performed molecular characterization of 24 unrelated FDH patients from different ethnic backgrounds and identified 23 different PORCN mutations: 3 were microdeletions encompassing PORCN as well as neighboring genes, and 12 (50%) of the 24 patients carried nonsense mutations resulting in loss of function. In 1 patient, a canonic splice acceptor site was mutated, and in 9 patients, 8 different missense mutations involving highly conserved amino acids (see, e.g., 300651.0005) were identified. </p><p>Froyen et al. (2009) analyzed the PORCN gene in 6 Finnish and 2 Belgian patients with FDH and identified a 150-kb deletion, encompassing PORCN and at least 5 other genes in a 13-year-old Finnish girl. In addition, they identified 2 different missense mutations, 1 in a 6-year-old Belgian girl and the other in a 16-year-old Finnish girl. Froyen et al. (2009) noted that the latter mutation (R365Q; 300651.0005) had previously been found in a Thai girl with a severe form of FDH by Leoyklang et al. (2008) and in a girl with a mild FDH phenotype by Bornholdt et al. (2009), and that the same arginine was found to be mutated to a glycine (R365G) in a male patient with FDH by Wang et al. (2007). Review of the 63 reported PORCN mutations, revealed that although mutations were scattered throughout the entire protein, there appeared to be a hotspot region between amino acids 349 and 365, with 11 mutations reported to date in that 16-amino acid stretch. Froyen et al. (2009) stated that these were the first causal PORCN mutations identified in the Finnish and Belgian FDH populations. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<strong>5 Selected Examples):</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0001 FOCAL DERMAL HYPOPLASIA</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PORCN, 13-BP DUP, NT1059
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<br />
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SNP: rs587776737,
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ClinVar: RCV000011446
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a female with focal dermal hypoplasia (FDH; 305600), Wang et al. (2007) identified a heterozygous 1059_1071dup13 (T358Pfs65X) mutation in exon 12 of the PORCN gene. Her father was found to have very low signals for the mutant sequence superimposed on the wildtype sequence, suggesting somatic mosaicism. The daughter was mildly affected, with dental pitting and notching, telangiectatic and atrophic skin, a Blaschko-linear pattern, and ectrodactyly. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 FOCAL DERMAL HYPOPLASIA</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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PORCN, GLY60ARG
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<br />
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|
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SNP: rs267606973,
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ClinVar: RCV000011447, RCV001857332, RCV003483430
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 females with focal dermal hypoplasia (FDH; 305600), Wang et al. (2007) identified heterozygosity for a 178G-A transition in exon 3 of the PORCN gene, resulting in a gly60-to-arg (G60R) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0003 FOCAL DERMAL HYPOPLASIA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PORCN, ARG124TER
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<br />
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SNP: rs137852218,
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ClinVar: RCV000011448, RCV000599522
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated females with focal dermal hypoplasia (FDH; 305600), Grzeschik et al. (2007) identified heterozygosity for a 370C-T transition in the PORCN gene, resulting in an arg124-to-ter (R124X) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 FOCAL DERMAL HYPOPLASIA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PORCN, TRP74TER
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<br />
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SNP: rs137852219,
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ClinVar: RCV000011449, RCV003234900
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a female with focal dermal hypoplasia (FDH; 305600), Grzeschik et al. (2007) identified a heterozygous 222G-A transition in the PORCN gene, resulting in a trp74-to-ter (W74X) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0005 FOCAL DERMAL HYPOPLASIA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PORCN, ARG365GLN
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<br />
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SNP: rs2061714949,
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ClinVar: RCV000022872, RCV003325557
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 3.75-year-old Thai girl with a severe form of focal dermal hypoplasia (FDH; 305600), Leoyklang et al. (2008) identified heterozygosity for a 1094G-A transition in exon 13 of the PORCN gene, predicted to result in an arg365-to-gln (R365Q) substitution at an evolutionarily conserved residue. Features in this patient included developmental delay, bilateral clinical anophthalmos, protruding ears, surgically repaired left complete cleft lip and palate, hypodontia, notched incisors, split sternum, ectrodactyly of the right hand, bilateral syndactyly of toes, mild scoliosis, and linear and patchy dermal hypoplasia on the chest, back, and extremities. The mutation was not found in 100 ethnically matched control X chromosomes. </p><p>In a 2-month-old female infant with a mild FDH phenotype, Bornholdt et al. (2009) identified heterozygosity for the R365Q mutation in the PORCN gene. The patient, who was a postzygotic mosaic for the mutation, displayed unilateral linear skin lesions, patchy hairlessness, and absence deformities of bones. The mutation was not found in 100 unrelated controls. </p><p>In a 16-year-old Finnish girl with FDH, Froyen et al. (2009) identified a de novo R365Q mutation in the PORCN gene. The mutation was not found in 300 X chromosomes derived from Finnish and Belgian controls. The patient had linear atrophic skin lesions on her extremities and buttocks, light erythematous streaks on the face, and an atrophic spot on the right side of the chest, as well as syndactyly of right-sided fingers and toes and pseudoarthrosis of the right bifid clavicle. She developed a cataract in her colobomatous right eye, which was without vision at 16 years of age. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>REFERENCES</strong>
|
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</span>
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Bornholdt, D., Oeffner, F., Konig, A., Happle, R., Alanay, Y., Ascherman, J., Benke, P. J., Boente, M. C., van der Burgt, I., Chassaing, N., Ellis, I., Francisco, C. R. I., and 22 others.
|
|
<strong>PORCN mutations in focal dermal hypoplasia: coping with lethality.</strong>
|
|
Hum. Mutat. 30: E618-E628, 2009. Note: Electronic Article. Erratum: Hum. Mutat. 30: 1472-1473, 2009.
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[PubMed: 19309688]
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[Full Text: https://doi.org/10.1002/humu.20992]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Caricasole, A., Ferraro, T., Rimland, J. M., Terstappen, G. C.
|
|
<strong>Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine.</strong>
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Gene 288: 147-157, 2002.
|
|
|
|
|
|
[PubMed: 12034504]
|
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|
|
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[Full Text: https://doi.org/10.1016/s0378-1119(02)00467-5]
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</p>
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Froyen, G., Govaerts, K., Van Esch, H., Verbeeck, J., Tuomi, M.-L., Heikkila, H., Torniainen, S., Devriendt, K., Fryns, J.-P., Marynen, P., Jarvela, I., Ala-Mello, S.
|
|
<strong>Novel PORCN mutations in focal dermal hypoplasia.</strong>
|
|
Clin. Genet. 76: 535-543, 2009.
|
|
|
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[PubMed: 19863546]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2009.01248.x]
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Grzeschik, K.-H., Bornholdt, D., Oeffner, F., Konig, A., Boente, M. del C., Fritz, B., Hertl, M., Grasshoff, U., Hofling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., Happle, R.
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<strong>Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.</strong>
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Nature Genet. 39: 833-835, 2007.
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[PubMed: 17546031]
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[Full Text: https://doi.org/10.1038/ng2052]
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Leoyklang, P., Suphapeetiporn, K., Wananukul, S., Shotelersuk, V.
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<strong>Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.</strong>
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Clin. Genet. 73: 373-379, 2008.
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[PubMed: 18325042]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2008.00975.x]
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Wang, X., Reid Sutton, V., Peraza-Llanes, J. O., Yu, Z., Rosetta, R., Kou, Y.-C., Eble, T. N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I. B.
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<strong>Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.</strong>
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Nature Genet. 39: 836-838, 2007.
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[PubMed: 17546030]
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[Full Text: https://doi.org/10.1038/ng2057]
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Marla J. F. O'Neill - updated : 2/3/2011<br>Victor A. McKusick - updated : 8/29/2007
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